Sample Report

CNV detection

Sample: 17296

Panell: mama

ExomeDepth

ExomeDepth is a R package designed to detect inherited copy number variants (CNVs) using whole exome data (WES) and smaller multi-gene panels. ExomeDepth uses read depth data to call CNVs i.e. it compares the number of reads for a given region with the number of reads of a an aggregate reference set.

Two parameters are provided with the CNV call:

• Bayes Factor (BF): quantifies the statistical support for each CNV. There is not a specific threshold but the higher that number, the more likelihood that the CNV is real.

• Reads Ratio: comparison of the number of reads of the reference set and the test sample. A read count of 1 indicates that the number of copies of the test sample is equal to the reference, thus normal. A read ratio > 1 could indicate a duplication and a read ratio < 1 could indicate a deletion.

Result table

Non-covered exons

This table shows the non-covered regions: the test sample (observed) or the reference sample (expected) have 0 reads in the target region

General view

Reads ratio by exon and gene